Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex

‘Kinesinopathies’: emerging role of the kinesin family member genes in birth defects

(2020) Silvia Kalantari et al.   JOURNAL OF MEDICAL GENETICS

A 63‐bp insertion in exon 2 of the porcine KIF21A gene is associated with arthrogryposis multiplex congenita

(2020) Z.‐H. Fang et al.   ANIMAL GENETICS

Genotype–phenotype correlations in recessive titinopathies

(2020) Marco Savarese et al.   GENETICS IN MEDICINE

Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics

(2020) Gina Ravenscroft et al.   JOURNAL OF MEDICAL GENETICS

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance

(2019) Davut Pehlivan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Gene ontology analysis of arthrogryposis (multiple congenital contractures)

(2019) Jeff Kiefer et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Kinesin Kif3b mutation reduces NMDAR subunit NR 2A trafficking and causes schizophrenia‐like phenotypes in mice

(2019) Ashwaq Hassan Alsabban et al.   EMBO JOURNAL

The genomic and clinical landscape of fetal akinesia

(2019) Matthias Pergande et al.   GENETICS IN MEDICINE

Primary Cilia Signaling Promotes Axonal Tract Development and Is Disrupted in Joubert Syndrome-Related Disorders Models

(2019) Jiami Guo et al.   DEVELOPMENTAL CELL

Recurrent TTN metatranscript‐only c.39974–11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy

(2019) Samantha J. Bryen et al.   HUMAN MUTATION

Genetics of neuromuscular fetal akinesia in the genomics era

(2018) Sarah Jane Beecroft et al.   JOURNAL OF MEDICAL GENETICS

De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy

(2018) Monica H. Wojcik et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature

(2018) Marie-Laure Vuillaume et al.   HUMAN MUTATION

Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing

(2017) Karen L. Stals et al.   PRENATAL DIAGNOSIS

Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects

(2016) Jillian P. Casey et al.   HUMAN MOLECULAR GENETICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Arthrogryposis (multiple congenital contractures): Diagnostic approach to etiology, classification, genetics, and general principles

(2014) Judith G. Hall   European Journal of Medical Genetics

Human CFEOM1 Mutations Attenuate KIF21A Autoinhibition and Cause Oculomotor Axon Stalling

(2014) Long Cheng et al.   NEURON

Phenotypic Spectrum of Simpson-Golabi-Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC 3 and Review of the Literature

(2013) EDOUARD COTTEREAU et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

CFEOM1-Associated Kinesin KIF21A Is a Cortical Microtubule Growth Inhibitor

(2013) Babet van der Vaart et al.   DEVELOPMENTAL CELL

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

(2013) Karine Poirier et al.   NATURE GENETICS

Failure to identify antenatal multiple congenital contractures and fetal akinesia - proposal of guidelines to improve diagnosis

(2013) Isabel Filges et al.   PRENATAL DIAGNOSIS

Spatiotemporal expression pattern of KIF21A during normal embryonic development and in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)

(2012) Jigar Desai et al.   GENE EXPRESSION PATTERNS

Fetal akinesia: review of the genetics of the neuromuscular causes

(2011) G. Ravenscroft et al.   JOURNAL OF MEDICAL GENETICS

Prevalence of multiple congenital contractures including arthrogryposis multiplex congenita in Alberta, Canada, and a strategy for classification and coding

(2010) R. Brian Lowry et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

A patient with the Simpson-Golabi-Behmel syndrome displays a loss-of-function point mutation inGPC3that inhibits the attachment of this proteoglycan to the cell surface

(2009) Wen Shi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Pena-Shokeir phenotype (Fetal akinesia deformation sequence) revisited

(2009) Judith G. Hall   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Kinesin superfamily motor proteins and intracellular transport

(2009) Nobutaka Hirokawa et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Review of perinatal management of arthrogryposis at a large UK teaching hospital serving a multiethnic population

(2009) O. B. Navti et al.   PRENATAL DIAGNOSIS

Carotid artery dissection in an adult with the Simpson–Golabi–Behmel syndrome

(2008) Isabelle Pénisson-Besnier et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A